(PDF) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly

Identification of an angiogenic factor that when mutated causes susceptibility to Klippel–Trenaunay syndrome

Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly

Malformations of Cortical Development

PDF) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly

Novel missense mutation in DLL4 in a Japanese sporadic case of Adams–Oliver syndrome

PDF) Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish

Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly

Identification of an angiogenic factor that when mutated causes susceptibility to Klippel–Trenaunay syndrome

Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly

De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics

Vascular Ehlers–Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family

Mutations truncating the EP300 acetylase in human cancers

Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund–Thomson Syndrome sibs with mild phenotype